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J Clin Endocrinol Metab. 2020 Mar 18. pii: dgaa140. doi: 10.1210/clinem/dgaa140. [Epub ahead of print]

Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections.

Borchers J1,2,3, Pukkala E4,5, Mäkitie O1,2,3,6, Laakso S1,2,3.

Author information

1
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
2
Folkhälsan Research Center, Helsinki, Finland.
3
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
4
Faculty of Social Sciences, Tampere University, Tampere, Finland.
5
Finnish Cancer Registry - Institute for Statistical and Epidemiological Cancer Research, Helsinki, Finland.
6
Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Abstract

CONTEXT:

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autoimmune endocrinopathy with severe and unpredictable course. The impact of APECED on mortality has not been determined.

OBJECTIVE:

To assess overall and cause-specific mortality of patients with APECED.

DESIGN:

and Setting: A follow-up study of Finnish patients with APECED in 1971-2018. Causes and dates of death were collected from Finnish registries.

PATIENTS:

Ninety-one patients with APECED.

MAIN OUTCOME MEASURE:

Overall and cause-specific standardized mortality ratios (SMRs) determined by comparing the observed numbers of death and those expected on the basis of respective population death rates in Finland.

RESULTS:

The overall disease mortality was significantly increased [29 deaths, SMR 11; 95% confidence interval (CI) 7.2-16; p<0.001]. The relative risk (SMR) was highest in the youngest age groups but the absolute excess risk was similar (about 10 per 10,000 person-years) in all age categories. The highest SMRs were seen for endocrine and metabolic diseases (SMR 570; 95% CI 270-1000; p<0.001) and for oral and esophageal malignancies (SMR 170; 95% CI 68-360; p<0.001). Mortality was also increased for infections, diseases of digestive system, alcohol-related deaths, and for accidents. Due to small number of cases we were unable to evaluate whether mortality was affected by disease severity.

CONCLUSIONS:

Patients with APECED have significantly increased mortality in all age groups. Highest SMRs are found for causes that are directly related to APECED but also for infections. Increased alcohol- and accident-related deaths may be influenced by psychosocial factors.

KEYWORDS:

APECED; APS-1; cause of death; mortality

PMID:
32185376
DOI:
10.1210/clinem/dgaa140

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